Search Results - "Bodamer, O"

Update on transcobalamin deficiency: clinical presentation, treatment and outcome by Trakadis, Y. J., Alfares, A., Bodamer, O. A., Buyukavci, M., Christodoulou, J., Connor, P., Glamuzina, E., Gonzalez-Fernandez, F., Bibi, H., Echenne, B., Manoli, I., Mitchell, J., Nordwall, M., Prasad, C., Scaglia, F., Schiff, M., Schrewe, B., Touati, G., Tchan, M. C., Varet, B., Venditti, C. P., Zafeiriou, D., Rupar, C. A., Rosenblatt, D. S., Watkins, D., Braverman, N.

“…Transcobalamin (TC) transports cobalamin from blood into cells. TC deficiency is a rare autosomal recessive disorder usually presenting in early infancy with…”
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Propionic acidemia: neonatal versus selective metabolic screening by Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O., Sass, J. O.

“…Background Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS…”
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Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype by Koenighofer, M., Hung, C. Y., McCauley, J. L., Dallman, J., Back, E. J., Mihalek, I., Gripp, K. W., Sol-Church, K., Rusconi, P., Zhang, Z., Shi, G-X., Andres, D. A., Bodamer, O. A.

“…RASopathies are a clinically heterogeneous group of conditions caused by mutations in 1 of 16 proteins in the RAS‐mitogen activated protein kinase (RAS‐MAPK)…”
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Expanded newborn screening in Europe 2007 by Bodamer, O. A., Hoffmann, G. F., Lindner, M.

“…Summary By January 2007 seven European countries had expanded, and more are considering the expansion of their newborn screening programmes by inclusion of ESI…”
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Liver, Pancreas and Kidney Transplantation for the Treatment of Wolcott–Rallison Syndrome by Tzakis, A. G., Nunnelley, M. J., Tekin, A., Buccini, L. D., Garcia, J., Uchida, K., Neville, H. L., Nares, M. A., Ruiz, P., Bodamer, O.

“…We present the case of a child who underwent a combined liver, pancreas and double kidney transplant following complications of Wolcott–Rallison syndrome (WRS)…”
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Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency by KÜLKENS, S, HARTING, I, SAUER, S, ZSCHOCKE, J, HOFFMANN, G. F, GRUBER, S, BODAMER, O. A, KÖLKER, S

“…Neurologic disease in glutaryl-CoA dehydrogenase (GCDH) deficiency usually presents with acute encephalopathic crises before 2 years of age. The authors report…”
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Expanding the clinical spectrum of biallelic ZNF335 variants by Stouffs, K., Stergachis, A.B., Vanderhasselt, T., Dica, A., Janssens, S., Vandervore, L., Gheldof, A., Bodamer, O., Keymolen, K., Seneca, S., Liebaers, I., Jayaraman, D., Hill, H.E., Partlow, J.N., Walsh, C.A., Jansen, A.C.

“…ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive…”
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Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU) by Huemer, M., Simma, B., Mayr, D., Möslinger, D., Mühl, A., Schmid, I., Ulmer, H., Bodamer, O.A.

“…Introduction Free asymmetric dimethylarginine (ADMA) is a competitive inhibitor of the nitric oxide synthases (NOS). Suppression of nitric oxide (NO) synthesis…”
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Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism by Stromberger, C., Bodamer, O. A., Stöckler‐Ipsiroglu, S.

“…Creatine deficiency syndromes are a newly described group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT) deficiency and…”
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Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family by Seidel, M G, Rami, B, Item, C, Schober, E, Zeitlhofer, P, Huber, W D, Heitger, A, Bodamer, O A, Haas, O A

“…CLTA4 is relevant for FOXP3+Treg cells, and the link between skewed X chromosome inactivation (XCI) and autoimmunity is recognized. The observation of immune…”
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Mutation analysis in 54 propionic acidemia patients by Kraus, J. P., Spector, E., Venezia, S., Estes, P., Chiang, P. W., Creadon-Swindell, G., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Ugarte, M., Sperl, W., Superti-Furga, A., Schwab, K. O., Grünert, S. C., Sass, J. O.

“…Deficiency of propionyl CoA carboxylase (PCC), a dodecamer of alpha and beta subunits, causes inherited propionic acidemia. We have studied, at the molecular…”
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Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters by Hörster, F, Garbade, S. F, Zwickler, T, Aydin, H. I, Bodamer, O. A, Burlina, A. B, Das, A. M, De Klerk, J. B. C, Dionisi-Vici, C, Geb, S, Gökcay, G, Guffon, N, Maier, E. M, Morava, E, Walter, J. H, Schwahn, B, Wijburg, F. A, Lindner, M, Grünewald, S, Baumgartner, M. R, Kölker, S

“…Objectives Isolated methylmalonic acidurias (MMAurias) are caused by deficiency of methylmalonyl-CoA mutase or by defects in the synthesis of its cofactor…”
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Metabolic changes in the normal ageing brain: Consistent findings from short and long echo time proton spectroscopy by Gruber, S, Pinker, K, Riederer, F, Chmelík, M, Stadlbauer, A, Bittšanský, M, Mlynárik, V, Frey, R, Serles, W, Bodamer, O, Moser, E

“…Abstract Objectives Sixty three healthy subjects were measured to assess dependence of brain metabolites on age using short- and long echo time spectroscopy in…”
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Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting by Winchester, B., Bali, D., Bodamer, O.A., Caillaud, C., Christensen, E., Cooper, A., Cupler, E., Deschauer, M., Fumić, K., Jackson, M., Kishnani, P., Lacerda, L., Ledvinová, J., Lugowska, A., Lukacs, Z., Maire, I., Mandel, H., Mengel, E., Müller-Felber, W., Piraud, M., Reuser, A., Rupar, T., Sinigerska, I., Szlago, M., Verheijen, F., van Diggelen, O.P., Wuyts, B., Zakharova, E., Keutzer, J.

“…Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid α-glucosidase (GAA). It presents at…”
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Congenital disorders of glycosylation—a challenging group of IEMs by Vodopiutz, J., Bodamer, O. A.

“…Summary Congenital disorders of glycosylation (CDG) are a rapidly growing group of inherited errors of metabolism (IEMs) due to an impairment of one or several…”
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Expert recommendations for the laboratory diagnosis of MPS VI by Wood, T., Bodamer, O.A., Burin, M.G., D'Almeida, V., Fietz, M., Giugliani, R., Hawley, S.M., Hendriksz, C.J., Hwu, W.L., Ketteridge, D., Lukacs, Z., Mendelsohn, N.J., Miller, N., Pasquali, M., Schenone, A., Schoonderwoerd, K., Winchester, B., Harmatz, P.

“…Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B, ASB). This…”
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Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease by Gruber, S, Bogner, W, Stadlbauer, A, Krssak, M, Bodamer, O

“…Abstract Objective Fabry and Gaucher diseases are rare progressive inherited disorders of glycosphingolipid metabolism that affect multiple organ systems. The…”
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LOW CREATININE : THE DIAGNOSTIC CLUE FOR A TREATABLE NEUROLOGIC DISORDER by BODAMER, O. A, IQBAL, F, MÜHL, A, HUNG, C, PRAYER, D, RATSCHMANN, R, ITEM, B. C

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Psychiatric symptoms of inherited metabolic disease by Estrov, Y., Scaglia, F., Bodamer, O. A. F.

“…Inborn errors of metabolism often present with a variety of psychiatric symptoms. With improved diagnosis and treatment options, many patients have increased…”
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Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia by Bodamer, O A, Hussein, K, Morris, A A, Langhans, C-D, Rating, D, Mayatepek, E, Leonard, J V

“…Aims: To investigate glucose and leucine kinetics in association with metabolic and endocrine investigations in children with ketotic hypoglycaemia (KH) in…”
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